Výsledky vyhledávání - Isabel Llano‐Rivas

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  1. 1
    Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

    Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Le... Autor Yasuko Hirata, Hilde Brems, Mayu Suzuki, Mitsuhiro Kanamori, Masahiro Okada, Rimpei Morita, Isabel Llano‐Rivas, Toyoyuki Ose, Ludwine Messiaen, Eric Legius, Akihiko Yoshimura

    Vydáno 2015
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  2. 2
    Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial

    Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial Autor Arantza Infante, Blanca Gener, Miguél Vázquez, Nerea Olivares, Arantza Arrieta, Gema Grau, Isabel Llano‐Rivas, Luís Madero, Ana M. Bueno, Belén Sagastizábal, Daniela Gerovska, Marcos J. Araúzo‐Bravo, Itziar Astigarraga, Clara I. Rodrı́guez

    Vydáno 2021
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  3. 3
    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain Autor Lídia González-Quereda, Maria José Rodríguez, Jordi Díaz‐Manera, Jorge Alonso‐Pérez, Eduard Gallardo, A. Nascimento, C. Ortez, Daniel Natera‐de Benito, Montse Olivé, Laura González, Adolfo López de Munaín, Miren Zulaica, Juan José Poza, Ivonne Jericó, Laura Torné, Pau Riera, José C. Milisenda, Aurora Sánchez, Glòria Garrabou, Isabel Llano‐Rivas, Marcos Madruga‐Garrido, P. Gallano

    Vydáno 2020
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  4. 4
    Clinical and Molecular Description of 16 Families With Heterozygous <i>IHH</i> Variants

    Clinical and Molecular Description of 16 Families With Heterozygous <i>IHH</i> Variants Autor Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona, Arrate Pereda, Manuel Parrón, Carolina de la Torre, Gabriela A. Vasques, Mariana F.A. Funari, André Travessa, Patrícia Dias, Larisa Suárez-Ortega, Jesús González-Buitrago, Nancy Elizabeth Portillo-Najera, Isabel Llano‐Rivas, María Martín-Frías, Joaquín Ramírez-Fernández, Jaime Sánchez del Pozo, L. Suárez Garzón, Gabriel Ángel Martos‐Moreno, Cristina Alfaro-Iznaola, Inés Mulero‐Collantes, Pablo Ruiz‐Ocaña, Paula Casano, A Portela, Lorea Ruiz-Pérez, Ángela del Pozo, Elena Vallespín, Mario Solís, Antônio Marcondes Lerário, I. González Casado, Purificación Ros‐Pérez, Guiomar Pérez de Nanclares, Alexander A.L. Jorge, Karen E. Heath

    Vydáno 2020
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  5. 5
    Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

    Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy Autor Juan Pablo Ochoa, María Sabater‐Molina, José Manuel García‐Pinilla, Jens Mogensen, Maria Alejandra Restrepo‐Córdoba, Julián Palomino-Doza, Eduardo Villacorta, Marina Martínez Moreno, Javier Ramos‐Maqueda, Esther Zorio, María Luisa Peña‐Peña, Pablo Elpidio García-Granja, José F. Rodríguez‐Palomares, Ivonne J. Cárdenas-Reyes, Maria M. de la Torre‐Carpente, A Bautista-Paves, Mohammed Akhtar, Marcos Cicerchia, Raquel Bilbao-Quesada, María Victoria Mogollón‐Jiménez, Joel Salazar‐Mendiguchía, José M. Mesa Latorre, Blanca Arnáez, Ivan Olavarri-Miguel, María Eugenia Fuentes‐Cañamero, Arsonval Lamounier, José María Pérez Ruiz, Vicente Climent, Inmaculada Pérez-Sánchez, Juan Pablo Trujillo‐Quintero, Luís R. Lopes, Alfredo Repáraz-Andrade, Rosario Marín-Iglesias, Alejandro Rodríguez-Vilela, María Sandín‐Fuentes, José Antonio Garrote, Alejandro Cortel-Fuster, Miguel A. López-Garrido, Ana Fontalba-Romero, Tomás Ripoll‐Vera, Isabel Llano‐Rivas, Xusto Fernández, María Isidoro‐García, Diego García-Giustiniani, Roberto Barriales‐Villa, Martín Ortiz-Genga, Pablo García‐Pavía, Perry Elliott, Juan R. Gimeno, Lorenzo Monserrat

    Vydáno 2018
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  6. 6
    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

    High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... Autor Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen

    Vydáno 2015
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  7. 7
    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment Autor Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas, Christine G. Spaeth, Stéphanie Efthymiou, Pasquale Striano, Jana Vandrovcová, Maria Concetta Cutrupi, Roberto Chimenz, Emanuele David, Gabriella Di Rosa, Anna Marcé‐Grau, Miquel Raspall‐Chaure, Elena Martín‐Hernández, Federico Zara, Carlo Minetti, Oscar D. Bello, Rita De Zorzi, Sara Fortuna, Andrew Dauber, Mariam Alkhawaja, Tipu Sultan, Kshitij Mankad, Antonio Vitobello, Quentin Thomas, Frédéric Tran Mau‐Them, Laurence Faivre, Francisco Martínez‐Azorín, Carlos E. Prada, Alfons Macaya, Dimitri M. Kullmann, James E. Rothman, Shyam S. Krishnakumar, Henry Houlden, Vincenzo Salpietro, Stéphanie Efthymiou, Yamna Kriouile, M. El Khorassani, M. Aguennouz, Blagovesta Marinova Karashova, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Lionel Van Maldergem, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belén Pérez‐Dueñas, Gabriella Di Rosa, Erica Pironti, Jatinder S. Goraya, Tipu Sultan, Salman Kirmani, Shahnaz Ibrahim, Farida Jan, Jun Mine, Selina Banu, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Gian Luigi Marseglia, Salvatore Savasta, Barbara Garavaglia, Carmela Scuderi, Eugenia Borgione, Valeria Dipasquale, Maria Concetta Cutrupi, Simona Portaro, Benigno Monteagudo Sanchez, Mercedes Pineda-Marfa, Francina Munell, Alfons Macaya, Richard G. Boles, Gali Heimer, Savvas Papacostas, Andreea Manole, Nancy T. Malintan, M. Natalia Zanetti, Michael G. Hanna, James E. Rothman, Dimitri M. Kullmann, Henry Houlden

    Vydáno 2019
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  8. 8
    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Autor Sayaka Kayumi, Luis A. Pérez‐Jurado, María Palomares‐Bralo, Sneha Rangu, Sarah E. Sheppard, Wendy K. Chung, Michael C. Kruer, Mira Kharbanda, David J. Amor, George McGillivray, Julie S. Cohen, Sixto García‐Miñaúr, Clare L. van Eyk, Kelly Harper, Lachlan A. Jolly, Dani L. Webber, Christopher Barnett, Fernando Santos‐Simarro, Marta Pacio‐Míguez, Ángela del Pozo, Somayeh Bakhtiari, Matthew A. Deardorff, Holly Dubbs, Kosuke Izumi, Katheryn Grand, Christopher Gray, Paul R. Mark, Elizabeth Bhoj, Dong Li, Xilma R. Ortiz‐González, Beth Keena, Elaine H. Zackai, Ethan M. Goldberg, Guiomar Pérez de Nanclares, Arrate Pereda, Isabel Llano‐Rivas, Ignacio Arroyo, María Ángeles Fernández-Cuesta, Christel Thauvin‐Robinet, Laurence Faivre, Aurore Garde, Benoît Mazel, Ange‐Line Bruel, Michael L. Tress, Eva H. Brilstra, Amena Smith Fine, Kylie Crompton, Alexander P.A. Stegmann, Margje Sinnema, Servi J.C. Stevens, Joost Nicolai, Gaëtan Lesca, Laurence Lion‐François, Damien Haye, Nicolas Chatron, Amélie Piton, Mathilde Nizon, Benjamin Cogné, Siddharth Srivastava, Jennifer A. Bassetti, Candace Muss, Karen W. Gripp, Rebecca Procopio, Francisca Millan, Michelle M. Morrow, Melissa Assaf, Andrés Moreno-De-Luca, Shelagh Joss, Mark Hamilton, M. Bertoli, Nicola Foulds, Shane McKee, Alastair H. MacLennan, Jozef Gécz, Mark Corbett

    Vydáno 2022
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  9. 9
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles Autor Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    Vydáno 2024
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  10. 10
    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Autor Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu, Marta Del Pozo‐Valero, Berta Almoguera, Fiona Blanco‐Kelly, Ester Carreño, Belén Jimenez‐Rolando, Rosario López‐Rodríguez, Isabel Lorda‐Sánchez, Inmaculada Martín-Mérida, Lucía Pérez de Ayala, Rosa Riveiro-Álvarez, Elvira Rodríguez‐Pinilla, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Ana Bustamante‐Aragonés, Rocio Cardero‐Merlo, Ruth Fernández‐Sánchez, J. Gallego‐Merlo, Ines Garcia-Vara, Ascensión Gimenez-Pardo, Laura Horcajada-Burgos, Fernando Infantes‐Barbero, Esther Lantero, Miguel Ángel López-Martínez, Andrea Martínez‐Ramas, Lorena Ondo, Marta Rodríguez de Alba, C. Sánchez-Jimeno, C. Vélez-Monsalve, Cristina Villaverde, Olga Zurita, Domingo Aguilera‐Garcia, Jana Aguirre-Lambán, Ana Arteche‐López, Diego Cantalapiedra, Patrícia José, Liliana Galbis-Martinez, Maria García‐Hoyos, Carlos Lombardia, María Isabel López-Molina, Raquel Pérez-Carro, Luciana Rodrigues Jacy da Silva, Carmen Ramos, Rocío Sánchez-Alcudia, Iker Sánchez‐Navarro, Sorina D. Tatu, Elena Vallespín, Elena Aller, Sara Bernal, Maria J. Gamundi, Gema García‐García, Inmaculada Hernan, Teresa Jaijo, Guillermo Antiñolo, Montserrat Baiget, Miguel Carballo, José M. Millán, Diana Valverde, Rando Allikmets, Sandro Banfi, Frans P.M. Cremers, Rob W.J. Collin, Elfride De Baere, Hákon Hákonarson, Susanne Kohl, Carlo Rivolta, Dror Sharon, María Concepción Alonso‐Cerezo, María Juliana Ballesta‐Martínez, Sergi Beltrán, Carmen Benito López, Jaume Catalá‐Mora, Claudio Catalli, Carmen Cotarelo-Pérez, Miguel Fernández‐Burriel, Ana Fontalba-Romero, Enrique Galán‐Gómez, María García‐Barcina, Loida M. Garcia-Cruz, Blanca Gener, Belén Gil-Fournier, Nancy Govea, Encarna Guillén‐Navarro, I. Hernando Acero, Cristina Irigoyen, Silvia Izquierdo Álvarez, Isabel Llano‐Rivas, Maria A. López-Ariztegui, Vanesa López‐González, Fermina Lopez-Grondona, Loreto Martorell, Pilar Mendez-Perez, María Moreno‐Igoa, Raluca Oancea-Ionescu, Francesc Palau, Guiomar Pérez de Nanclares, Feliciano J. Ramos-Fuentes, Raquel Rodríguez‐López

    Vydáno 2021
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